Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea / 대한생식의학회지
Clinical and Experimental Reproductive Medicine
;
: 206-210, 2019.
Artículo
en Inglés
| WPRIM
| ID: wpr-785637
ABSTRACT
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Prostaglandinas D
/
Blastómeros
/
Reacción en Cadena de la Polimerasa
/
Mucopolisacaridosis II
/
Enfermedades por Almacenamiento Lisosomal
/
Mucopolisacaridosis
/
Edad de Inicio
/
Diagnóstico Preimplantación
/
Parto
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Clinical and Experimental Reproductive Medicine
Año:
2019
Tipo del documento:
Artículo
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